MCID: ATM002
MIFTS: 43

Autoimmune Polyendocrine Syndrome Type 1

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 12 6 15
Whitaker Syndrome 12 73
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 12
Polyglandular Type I Autoimmune Syndrome 70
Autoimmune Polyglandular Syndrome I 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050167
UMLS 70 C0085859

Summaries for Autoimmune Polyendocrine Syndrome Type 1

Disease Ontology : 12 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

MalaCards based summary : Autoimmune Polyendocrine Syndrome Type 1, also known as whitaker syndrome, is related to autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and vitiligo-associated multiple autoimmune disease susceptibility 1, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Circadian rythm related genes and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include thymus, bone and skin.

Wikipedia : 73 Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.6 TPH1 TH DDC CYP21A2 CASR AIRE
2 vitiligo-associated multiple autoimmune disease susceptibility 1 31.3 IL17A DDC CCR6 AIRE
3 candidiasis 31.3 IL17F IL17A CARD9 AIRE
4 oral candidiasis 31.2 IL17A CCR6 CARD9 AIRE
5 pernicious anemia 31.0 NUDT10 CCR6 AIRE
6 autoimmune hepatitis 30.9 IL17A DDC AIRE
7 hypoadrenocorticism, familial 30.7 TPH1 DDC CYP21A2 AIRE
8 chronic mucocutaneous candidiasis 30.4 NLRP5 KCNRG IL17F IL17A CST2 CCR6
9 celiac disease 1 30.3 NUDT10 IL17A H2AC18 CYP21A2 CCR6 AIRE
10 autoimmune polyendocrine syndrome 30.2 TSGA10 TPH1 TH TDRD6 NLRP5 KCNRG
11 hypoparathyroidism 10.8
12 vitiligo-associated multiple autoimmune disease susceptibility 6 10.7
13 keratoconjunctivitis 10.7
14 autosomal recessive disease 10.6
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.6
16 polyendocrinopathy 10.6
17 keratopathy 10.6
18 autoimmune disease 10.6
19 keratitis, hereditary 10.5
20 ifap syndrome 2 10.5
21 gastritis 10.5
22 premature ovarian failure 7 10.5
23 primary adrenal insufficiency 10.5
24 interstitial nephritis 10.4
25 uveitis 10.4
26 exocrine pancreatic insufficiency 10.4
27 connective tissue disease 10.4
28 cataract 10.4
29 herpes simplex 10.4
30 alopecia areata 10.4
31 wissler-fanconi syndrome 10.4 TPH1 AIRE
32 systemic autoimmune disease 10.4 IL17A AIRE
33 alopecia 10.4
34 chondrodysplasia, blomstrand type 10.3 NLRP5 CASR AIRE
35 hair whorl 10.3
36 otitis media 10.3
37 alopecia universalis congenita 10.3
38 apparent mineralocorticoid excess 10.3
39 immune deficiency disease 10.3
40 ocular motor apraxia 10.3
41 yemenite deaf-blind hypopigmentation syndrome 10.3
42 t-cell large granular lymphocyte leukemia 10.3
43 interleukin-7 receptor alpha deficiency 10.3
44 mucositis 10.3
45 chronic urticaria 10.3
46 pemphigoid 10.3
47 glucose intolerance 10.3
48 premature menopause 10.3
49 goiter 10.3
50 nephrocalcinosis 10.3

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to Autoimmune Polyendocrine Syndrome Type 1

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome Type 1

UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome Unknown status NCT03751683

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

40
Thymus, Bone, Skin, Liver, Testis, Tongue, Pituitary

Publications for Autoimmune Polyendocrine Syndrome Type 1

Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show top 50) (show all 181)
# Title Authors PMID Year
1
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. 6 61
28911151 2017
2
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. 61 6
28446514 2017
3
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. 61 6
28919897 2017
4
AIRE-mutations and autoimmune disease. 61 6
27504588 2016
5
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. 6 61
26084028 2015
6
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. 6 61
25361846 2014
7
Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns. 6 61
22104652 2012
8
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation. 61 6
22024611 2012
9
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl. 61 6
21932610 2011
10
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. 6 61
20453472 2010
11
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. 6 61
17118990 2007
12
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. 6
31588815 2020
13
Autoimmune Polyglandular Syndrome Type 1: a case report. 6
31420020 2019
14
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes. 6
30863741 2019
15
Rapid chromatin repression by Aire provides precise control of immune tolerance. 6
29335648 2018
16
The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages. 6
29666621 2018
17
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. 6
28323927 2017
18
Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome. 6
28458664 2017
19
GAD antibody-associated limbic encephalitis in a young woman with APECED. 6
28567288 2017
20
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 6
27588307 2016
21
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran. 6
27105486 2016
22
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. 6
26915675 2016
23
Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells. 6
27048654 2016
24
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1. 6
26114819 2015
25
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. 6
26141571 2015
26
Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia. 6
27646917 2015
27
Expanding the spectrum: chronic urticaria and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 6
25707324 2015
28
A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 6
25064028 2014
29
Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl - 12 years of observation. 6
25554620 2014
30
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. 6
24158785 2013
31
Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes. 6
22450362 2012
32
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. 6
22162465 2012
33
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives. 6
21508664 2012
34
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation. 6
23133448 2012
35
Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription. 6
21724609 2011
36
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 6
21295522 2011
37
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. 6
20718774 2010
38
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. 6
19863576 2010
39
DAXX is a new AIRE-interacting protein. 6
20185822 2010
40
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 6
20407228 2010
41
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians. 6
19807739 2009
42
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. 6
19758376 2009
43
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. 6
19265170 2009
44
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. 6
18616706 2009
45
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. 6
18274776 2008
46
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. 6
18728167 2008
47
Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. 6
18682433 2008
48
Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. 6
18708298 2008
49
Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE. 6
18248641 2008
50
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 6
18426830 2008

Variations for Autoimmune Polyendocrine Syndrome Type 1

ClinVar genetic disease variations for Autoimmune Polyendocrine Syndrome Type 1:

6 (show top 50) (show all 346)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIRE NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) SNV Pathogenic 68222 rs179363882 GRCh37: 21:45706561-45706561
GRCh38: 21:44286678-44286678
2 AIRE NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) SNV Pathogenic 3308 rs121434255 GRCh37: 21:45706554-45706554
GRCh38: 21:44286671-44286671
3 AIRE NM_000383.4(AIRE):c.1513del (p.Ala505fs) Deletion Pathogenic 3312 rs387906294 GRCh37: 21:45716275-45716275
GRCh38: 21:44296392-44296392
4 AIRE NM_000383.4(AIRE):c.1A>T (p.Met1Leu) SNV Pathogenic 3314 rs121434258 GRCh37: 21:45705890-45705890
GRCh38: 21:44286007-44286007
5 AIRE NM_000383.4(AIRE):c.239T>G (p.Val80Gly) SNV Pathogenic 3317 rs267606642 GRCh37: 21:45706546-45706546
GRCh38: 21:44286663-44286663
6 AIRE NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) Insertion Pathogenic 56221 rs386833672 GRCh37: 21:45712943-45712944
GRCh38: 21:44293060-44293061
7 AIRE NM_000383.4(AIRE):c.967_979del (p.Leu323fs) Deletion Pathogenic 3309 rs386833675 GRCh37: 21:45711063-45711075
GRCh38: 21:44291180-44291192
8 AIRE NM_000383.4(AIRE):c.1265del (p.Pro422fs) Deletion Pathogenic 265456 rs764878471 GRCh37: 21:45713044-45713044
GRCh38: 21:44293161-44293161
9 AIRE NC_000021.9:g.(?_44285987)_(44297747_?)del Deletion Pathogenic 458611 GRCh37: 21:45705870-45717630
GRCh38: 21:44285987-44297747
10 AIRE NM_000383.4(AIRE):c.1193del (p.Pro398fs) Deletion Pathogenic 551697 rs1555872988 GRCh37: 21:45712972-45712972
GRCh38: 21:44293089-44293089
11 AIRE NM_000383.4(AIRE):c.1567-2A>G SNV Pathogenic 551748 rs1555873650 GRCh37: 21:45717537-45717537
GRCh38: 21:44297654-44297654
12 AIRE NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) SNV Pathogenic 379319 rs140630532 GRCh37: 21:45706581-45706581
GRCh38: 21:44286698-44286698
13 AIRE NM_000383.4(AIRE):c.1096-1G>A SNV Pathogenic 551625 rs780906602 GRCh37: 21:45712875-45712875
GRCh38: 21:44292992-44292992
14 AIRE NM_000383.4(AIRE):c.931del (p.Cys311fs) Deletion Pathogenic 554933 rs1555872755 GRCh37: 21:45711029-45711029
GRCh38: 21:44291146-44291146
15 AIRE NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) SNV Pathogenic 567249 rs1488613451 GRCh37: 21:45707405-45707405
GRCh38: 21:44287522-44287522
16 AIRE NM_000383.4(AIRE):c.958del (p.Leu320fs) Deletion Pathogenic 573407 rs1568928525 GRCh37: 21:45711055-45711055
GRCh38: 21:44291172-44291172
17 AIRE NM_000383.4(AIRE):c.132+1_132+3delinsCT Indel Pathogenic 279973 rs886041293 GRCh37: 21:45706022-45706024
GRCh38: 21:44286139-44286141
18 AIRE NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) SNV Pathogenic 648772 rs1601969308 GRCh37: 21:45713053-45713053
GRCh38: 21:44293170-44293170
19 AIRE NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) Duplication Pathogenic 636457 rs1601963938 GRCh37: 21:45705909-45705910
GRCh38: 21:44286026-44286027
20 AIRE NM_000383.4(AIRE):c.489dup (p.Lys164fs) Duplication Pathogenic 664355 rs746101086 GRCh37: 21:45707419-45707420
GRCh38: 21:44287536-44287537
21 AIRE NM_000383.4(AIRE):c.117del (p.Glu40fs) Deletion Pathogenic 803632 rs1248788128 GRCh37: 21:45706003-45706003
GRCh38: 21:44286120-44286120
22 AIRE NM_000383.4(AIRE):c.47C>T (p.Thr16Met) SNV Pathogenic 68227 rs179363877 GRCh37: 21:45705936-45705936
GRCh38: 21:44286053-44286053
23 AIRE NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) Insertion Pathogenic 585381 rs763695515 GRCh37: 21:45713688-45713689
GRCh38: 21:44293805-44293806
24 AIRE NM_000383.4(AIRE):c.789del (p.Ala264fs) Deletion Pathogenic 3315 rs387906295 GRCh37: 21:45709676-45709676
GRCh38: 21:44289793-44289793
25 AIRE NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) SNV Pathogenic 68232 rs179363885 GRCh37: 21:45711075-45711075
GRCh38: 21:44291192-44291192
26 AIRE NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) Duplication Pathogenic 424080 rs940485051 GRCh37: 21:45707437-45707438
GRCh38: 21:44287554-44287555
27 AIRE NM_000383.4(AIRE):c.995+3_995+5delinsTAT Indel Pathogenic 966540 GRCh37: 21:45711096-45711098
GRCh38: 21:44291213-44291215
28 AIRE NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) SNV Pathogenic 950721 GRCh37: 21:45706875-45706875
GRCh38: 21:44286992-44286992
29 AIRE NM_000383.4(AIRE):c.-17_27del (p.Met1fs) Deletion Pathogenic 954404 GRCh37: 21:45705869-45705912
GRCh38: 21:44285986-44286029
30 AIRE NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) SNV Pathogenic 973619 GRCh37: 21:45716311-45716311
GRCh38: 21:44296428-44296428
31 AIRE NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) SNV Pathogenic 3310 rs121434256 GRCh37: 21:45706968-45706968
GRCh38: 21:44287085-44287085
32 AIRE NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) SNV Pathogenic 189060 rs179363880 GRCh37: 21:45706539-45706539
GRCh38: 21:44286656-44286656
33 AIRE NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) SNV Pathogenic 3307 rs121434254 GRCh37: 21:45709656-45709656
GRCh38: 21:44289773-44289773
34 AIRE NM_000383.4(AIRE):c.1095+2T>C SNV Pathogenic 646517 rs760280615 GRCh37: 21:45712286-45712286
GRCh38: 21:44292403-44292403
35 AIRE NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) Duplication Pathogenic 279674 rs886041124 GRCh37: 21:45706511-45706512
GRCh38: 21:44286628-44286629
36 AIRE NM_000383.4(AIRE):c.1103dup (p.Leu370fs) Duplication Pathogenic 3311 rs387906293 GRCh37: 21:45712877-45712878
GRCh38: 21:44292994-44292995
37 AIRE NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) SNV Pathogenic 848152 GRCh37: 21:45708296-45708296
GRCh38: 21:44288413-44288413
38 AIRE NM_000383.4(AIRE):c.1249dup (p.Leu417fs) Duplication Pathogenic/Likely pathogenic 188935 rs786204567 GRCh37: 21:45713024-45713025
GRCh38: 21:44293141-44293142
39 AIRE NM_000383.4(AIRE):c.463+2T>C SNV Pathogenic/Likely pathogenic 188800 rs786204478 GRCh37: 21:45707018-45707018
GRCh38: 21:44287135-44287135
40 AIRE NM_000383.4(AIRE):c.62C>T (p.Ala21Val) SNV Likely pathogenic 68228 rs179363886 GRCh37: 21:45705951-45705951
GRCh38: 21:44286068-44286068
41 AIRE NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) SNV Likely pathogenic 56222 rs386833673 GRCh37: 21:45717610-45717610
GRCh38: 21:44297727-44297727
42 AIRE NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) SNV Likely pathogenic 56223 rs386833674 GRCh37: 21:45711030-45711030
GRCh38: 21:44291147-44291147
43 AIRE NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) SNV Likely pathogenic 35665 rs193922418 GRCh37: 21:45707016-45707016
GRCh38: 21:44287133-44287133
44 AIRE NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) SNV Likely pathogenic 68218 rs179363889 GRCh37: 21:45717588-45717588
GRCh38: 21:44297705-44297705
45 AIRE NM_000383.4(AIRE):c.1278+1del Deletion Likely pathogenic 370984 rs996389327 GRCh37: 21:45713058-45713058
GRCh38: 21:44293175-44293175
46 AIRE NM_000383.4(AIRE):c.1566+2dup Duplication Likely pathogenic 370846 rs1057516811 GRCh37: 21:45716329-45716330
GRCh38: 21:44296446-44296447
47 AIRE NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) Indel Likely pathogenic 370206 rs1057516314 GRCh37: 21:45707010-45707011
GRCh38: 21:44287127-44287128
48 AIRE NM_000383.4(AIRE):c.1476_1479CGCC[1] (p.Arg494fs) Microsatellite Likely pathogenic 371185 rs1057517072 GRCh37: 21:45714357-45714360
GRCh38: 21:44294474-44294477
49 AIRE NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) SNV Likely pathogenic 370451 rs1057516499 GRCh37: 21:45706540-45706540
GRCh38: 21:44286657-44286657
50 AIRE NM_000383.4(AIRE):c.260del (p.Leu87fs) Deletion Likely pathogenic 371637 rs1057517428 GRCh37: 21:45706567-45706567
GRCh38: 21:44286684-44286684

Expression for Autoimmune Polyendocrine Syndrome Type 1

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for Autoimmune Polyendocrine Syndrome Type 1

GO Terms for Autoimmune Polyendocrine Syndrome Type 1

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.75 IL17F IL17A CARD9
2 positive regulation of interleukin-6 production GO:0032755 9.73 IL17F IL17A CARD9
3 circadian rhythm GO:0007623 9.72 TPH2 TPH1 DDC
4 multicellular organism aging GO:0010259 9.58 TH DDC
5 regulation of interleukin-6 production GO:0032675 9.57 IL17F CARD9
6 dopamine biosynthetic process GO:0042416 9.54 TH DDC
7 interleukin-17-mediated signaling pathway GO:0097400 9.52 IL17F IL17A
8 cellular response to alkaloid GO:0071312 9.51 TH DDC
9 catecholamine biosynthetic process GO:0042423 9.49 TH DDC
10 positive regulation of chemokine (C-X-C motif) ligand 1 production GO:2000340 9.48 IL17F IL17A
11 response to pyrethroid GO:0046684 9.46 TH DDC
12 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.43 TH DDC
13 isoquinoline alkaloid metabolic process GO:0033076 9.4 TH DDC
14 phytoalexin metabolic process GO:0052314 9.37 TH DDC
15 aromatic amino acid family metabolic process GO:0009072 9.33 TPH2 TPH1 TH
16 regulation of interleukin-2 production GO:0032663 9.32 IL17F CARD9
17 positive regulation of antimicrobial peptide production GO:0002225 9.26 IL17F IL17A
18 indolalkylamine biosynthetic process GO:0046219 9.13 TPH2 TPH1 DDC
19 serotonin biosynthetic process GO:0042427 8.8 TPH2 TPH1 DDC

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.77 TPH2 TPH1 TH EGLN2 CYP21A2
2 monooxygenase activity GO:0004497 9.56 TPH2 TPH1 TH CYP21A2
3 iron ion binding GO:0005506 9.35 TPH2 TPH1 TH EGLN2 CYP21A2
4 amino acid binding GO:0016597 9.33 TH DDC CASR
5 tryptophan 5-monooxygenase activity GO:0004510 9.32 TPH2 TPH1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.8 TPH2 TPH1 TH

Sources for Autoimmune Polyendocrine Syndrome Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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